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Description for Protein DES

desmin
15 total interacting proteins; 7 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K07610
    KEGG - Pathway(s):
    hsa05410; hsa05412; hsa05414
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    DES Skeletin
    Approved Symbol:
    DES
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 11
    Human (de-) phosphorylation sites: 11; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Cardiomyopathy, dilated, 1i(Pd);
  • Myopathy, desmin-related(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 00514 Entrez Gene ID: 1674 OMIM ID: 125660 Swissprot Accession: P17661; Q53SB5;